Incidental Mutation 'IGL01527:Tbx10'
ID 89599
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tbx10
Ensembl Gene ENSMUSG00000037477
Gene Name T-box 10
Synonyms Tbx13, Tbx7
Accession Numbers
Essential gene? Probably non essential (E-score: 0.190) question?
Stock # IGL01527
Quality Score
Status
Chromosome 19
Chromosomal Location 4042752-4049512 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 4048227 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Glycine at position 251 (R251G)
Ref Sequence ENSEMBL: ENSMUSP00000037401 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025802] [ENSMUST00000041871] [ENSMUST00000122924] [ENSMUST00000155405]
AlphaFold Q810F8
Predicted Effect probably benign
Transcript: ENSMUST00000025802
SMART Domains Protein: ENSMUSP00000025802
Gene: ENSMUSG00000110949

DomainStartEndE-ValueType
Pfam:NUDIX 26 160 2.8e-14 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000041871
AA Change: R251G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000037401
Gene: ENSMUSG00000037477
AA Change: R251G

DomainStartEndE-ValueType
TBOX 64 257 9.2e-117 SMART
low complexity region 309 320 N/A INTRINSIC
low complexity region 331 351 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000122924
SMART Domains Protein: ENSMUSP00000122531
Gene: ENSMUSG00000110949

DomainStartEndE-ValueType
Pfam:NUDIX 19 117 3.1e-12 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000155405
SMART Domains Protein: ENSMUSP00000119218
Gene: ENSMUSG00000024869

DomainStartEndE-ValueType
Pfam:NUDIX 29 159 8.1e-15 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156285
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the T-box family of transcription factors. These transcription factors share a DNA-binding domain called the T-box, and play a role in several developmental processes including early embryonic cell fate and organogenesis. The encoded protein is a member of the T-box 1 subfamily. Mutations in this gene are thought to be a cause of isolated cleft lip with or without cleft palate. [provided by RefSeq, Nov 2010]
PHENOTYPE: Mice homozygous for a gain of function mutation die perinatally with cleft lip and cleft palate; heterozygotes show penetrance and strain effects - they generally circle and head-toss, but are not deaf, lack the macula of utriculus and show defects of the labyrinths in the vestibular region. [provided by MGI curators]
Allele List at MGI

All alleles(6) : Targeted(5) Spontaneous(1)
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2300002M23Rik G T 17: 35,878,730 (GRCm39) probably null Het
Abca13 T A 11: 9,240,788 (GRCm39) W884R possibly damaging Het
Ahi1 T C 10: 20,835,984 (GRCm39) probably benign Het
Ankfn1 G T 11: 89,282,465 (GRCm39) P394Q probably benign Het
Cacnb2 T C 2: 14,989,081 (GRCm39) I393T possibly damaging Het
Ces1a G T 8: 93,771,726 (GRCm39) P24T probably damaging Het
Col22a1 T C 15: 71,778,880 (GRCm39) E269G probably damaging Het
Cyp24a1 A G 2: 170,338,486 (GRCm39) L70P probably damaging Het
Cyp8b1 T C 9: 121,744,061 (GRCm39) K424E probably damaging Het
Dicer1 G A 12: 104,657,869 (GRCm39) Q1902* probably null Het
Dst T A 1: 34,286,734 (GRCm39) L544Q probably damaging Het
Esrp2 T C 8: 106,858,865 (GRCm39) T591A probably benign Het
Gap43 C T 16: 42,112,516 (GRCm39) E82K probably benign Het
Ift70a1 T C 2: 75,810,860 (GRCm39) I408V probably benign Het
Kif17 G A 4: 137,996,397 (GRCm39) V125I probably benign Het
Lancl2 T C 6: 57,709,307 (GRCm39) S370P probably damaging Het
Macf1 T C 4: 123,386,953 (GRCm39) I203V possibly damaging Het
Mphosph9 A G 5: 124,421,687 (GRCm39) probably benign Het
Ncapg A G 5: 45,829,726 (GRCm39) I143V possibly damaging Het
Nr3c1 A G 18: 39,619,690 (GRCm39) V199A probably benign Het
Obscn T A 11: 58,955,243 (GRCm39) N3890I possibly damaging Het
Or2g7 A G 17: 38,378,986 (GRCm39) N308S probably benign Het
Or2h2c A T 17: 37,422,701 (GRCm39) Y58N probably damaging Het
Or52n5 T A 7: 104,588,198 (GRCm39) V155E possibly damaging Het
Or8g32 A G 9: 39,305,114 (GRCm39) H6R probably benign Het
Palmd C A 3: 116,720,837 (GRCm39) E166* probably null Het
Pdzd2 T C 15: 12,445,750 (GRCm39) E327G probably damaging Het
Pex13 T C 11: 23,606,111 (GRCm39) T40A probably benign Het
Pkd2 T C 5: 104,646,750 (GRCm39) probably benign Het
Plb1 A G 5: 32,474,467 (GRCm39) T643A probably damaging Het
Prlr T A 15: 10,329,257 (GRCm39) D577E probably benign Het
Rimoc1 T C 15: 4,018,165 (GRCm39) Y170C probably damaging Het
Slc44a3 A G 3: 121,320,777 (GRCm39) C75R probably damaging Het
Susd6 A T 12: 80,921,093 (GRCm39) N230I possibly damaging Het
Uap1l1 A G 2: 25,253,816 (GRCm39) probably null Het
Ugt2b5 A G 5: 87,284,068 (GRCm39) V308A possibly damaging Het
Usp28 C A 9: 48,937,173 (GRCm39) H147Q probably benign Het
Vmn1r203 T C 13: 22,708,447 (GRCm39) I76T possibly damaging Het
Vmn2r104 A G 17: 20,263,158 (GRCm39) I101T possibly damaging Het
Vmn2r17 T A 5: 109,601,006 (GRCm39) L768H probably damaging Het
Other mutations in Tbx10
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01597:Tbx10 APN 19 4,046,736 (GRCm39) missense probably benign 0.00
IGL02006:Tbx10 APN 19 4,048,186 (GRCm39) missense probably damaging 1.00
IGL03294:Tbx10 APN 19 4,048,571 (GRCm39) unclassified probably benign
R0051:Tbx10 UTSW 19 4,046,798 (GRCm39) critical splice donor site probably null
R0105:Tbx10 UTSW 19 4,043,121 (GRCm39) unclassified probably benign
R0626:Tbx10 UTSW 19 4,047,873 (GRCm39) missense probably benign 0.42
R1265:Tbx10 UTSW 19 4,046,625 (GRCm39) missense probably damaging 0.97
R4713:Tbx10 UTSW 19 4,046,921 (GRCm39) missense probably damaging 1.00
R6337:Tbx10 UTSW 19 4,047,312 (GRCm39) nonsense probably null
R7021:Tbx10 UTSW 19 4,048,961 (GRCm39) missense probably benign
R7476:Tbx10 UTSW 19 4,049,034 (GRCm39) missense probably benign 0.00
R7549:Tbx10 UTSW 19 4,046,651 (GRCm39) missense probably benign 0.02
R8768:Tbx10 UTSW 19 4,047,303 (GRCm39) missense probably damaging 1.00
Z1177:Tbx10 UTSW 19 4,048,186 (GRCm39) missense probably damaging 1.00
Posted On 2013-12-03